ISSN: 2149-2247 | E-ISSN: 2149-2549

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Erciyes Medical Journal Treacher Collins syndrome with a novel deletion in the TCOF1 gene [Erciyes Med J]
Erciyes Med J. Ahead of Print: EMJ-62144 | DOI: 10.14744/etd.2019.62144

Treacher Collins syndrome with a novel deletion in the TCOF1 gene

Büşra Eser Çavdartepe, Nadir Koçak, Nafiz Yaşa, Tülin Çora
Department of Medical Genetics, Selcuk University Faculty of Medicine, Konya, Turkey

Background: Treacher Collins syndrome (TCS), is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1/50000 live births. There are bilaterally symmetric anomalies of the structure within the first and second branchial arches. The characteristic facial findings includes bilateral hypoplasia of the malar bones and mandible. This syndrome most commonly results from the TCOF1 gene mutations. Case Report: Here we present a five-year-old female patient with syndromic appearance and hearing loss.The patient had various facial dysmorphic features and malformed bilateral pinnae and left ear microtia. According to the clinical features, we suspect from TCS and sequence analysis of TCOF1 gene was performed. Conclusion: A heterozygous new mutation c.1722_1731delCATCCTCCAG in exon 12 of the TCOF1 gene was detected. It has been determined that this mutation is pathogenic according to the in silico prediction tools. The current study further expands the TCOF1 mutation spectrum.

Keywords: mutation, TCOF1 gene, Treacher Collins syndrome, hearing

Corresponding Author: Büşra Eser Çavdartepe, Türkiye
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